Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
Manning
B M
BM
Department of Biochemistry, University College, Cork, Ireland.
Quane
K A
KA
Lynch
P J
PJ
Urwyler
A
A
Tegazzin
V
V
Krivosic-Horber
R
R
Censier
K
K
Comi
G
G
Adnet
P
P
Wolz
W
W
Lunardi
J
J
Muller
C R
CR
McCarthy
T V
TV
D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D018899:CpG Islands; D003545:Cysteine / Q000235:genetics; D005260:Female; D005838:Genotype; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel; D006639:Histidine; D001120:Arginine; D003545:Cysteine